A gain‐of‐function mutation in the ITPR1 gating domain causes male infertility in mice

Inositol 1,4,5‐trisphosphate receptor 1 (ITPR1) is an intracellular Ca2+ release channel critical for numerous cellular processes. Despite its ubiquitous physiological significance, ITPR1 mutations have thus far been linked to primarily movement disorders. Surprisingly, most disease‐associated ITPR1...

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Veröffentlicht in:	Journal of cellular physiology 2022-08, Vol.237 (8), p.3305-3316
Hauptverfasser:	Sun, Bo, Ni, Mingke, Tian, Shanshan, Guo, Wenting, Cai, Shitian, Sondergaard, Mads T., Chen, Yongxiang, Mu, Yongxin, Estillore, John P., Wang, Ruiwu, Chen, Ju, Overgaard, Michael T., Fill, Michael, Ramos‐Franco, Josefina, Nyegaard, Mette, Wayne Chen, Sui Rong
Format:	Artikel
Sprache:	eng
Schlagworte:	acrosome Animals azoospermia Calcium (intracellular) Calcium - metabolism Calcium ions Calcium release channels Channel gating Disorders Domains Gain of Function Mutation HEK293 Cells Humans Infertility Infertility, Male - genetics Inositol 1,4,5-Trisphosphate Inositol 1,4,5-trisphosphate receptors Inositol 1,4,5-Trisphosphate Receptors - genetics inositol 1,4,5‐trisphosphate receptor Inositols intracellular Ca2+ release Male male infertility Males Mice Movement disorders Mutation Mutation - genetics
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